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Disease Profile

Fallot complex with severe mental and growth retardation

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Bindewald Ulmer Muller syndrome

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 3304

Definition
Fallot complex intellectual deficit growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.

Epidemiology
To date, five patients have been reported in two families.

Clinical description
Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of 2nd and 3rd toes have also been recorded. All five patients have severe intellectual deficiency.

Genetic counseling
The condition is probably hereditary, and is transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Intellectual disability, profound
IQ less than 20
0002187
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Severe failure to thrive
Severe faltering weight
Severe weight faltering

[ more ]

0001525
30%-79% of people have these symptoms
2-3 toe syndactyly
Webbed 2nd and 3rd toes
0004691
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Double outlet right ventricle
0001719
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Frontal hirsutism
Hairy forehead
0011335
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Macrotia
Large ears
0000400
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Severe global developmental delay
0011344
Single transverse palmar crease
0000954
Tetralogy of Fallot
0001636
5%-29% of people have these symptoms
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing

[ more ]

0100759
Clubbing of toes
0100760
Cyanosis
Blue discoloration of the skin
0000961
High forehead
0000348
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplastic nasal tip
Decreased size of nasal tip
Decreased size of tip of nose
Small nasal tip
Small tip of nose
Underdevelopment of nasal tip
Underdevelopment of tip of nose

[ more ]

0005278
Opisthotonus
0002179
Overriding aorta
0002623
Patent ductus arteriosus
0001643
Persistent left superior vena cava
0005301
Recurrent otitis media
Recurrent middle ear infection
0000403
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Thin upper lip vermilion
Thin upper lip
0000219
Unilateral ptosis
Dropping of one upper eyelid
0007687
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
Percent of people who have these symptoms is not available through HPO
Abnormality of the face
Abnormal face
Facial abnormality

[ more ]

0000271
Autosomal recessive inheritance
0000007
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fallot complex with severe mental and growth retardation. Click on the link to view a sample search on this topic.